Mutagenetix > Incidental Mutation

Incidental Mutation 'R1746:Trmt44'

193974

Institutional Source

Beutler Lab

Gene Symbol

Trmt44

Ensembl Gene

ENSMUSG00000029097

Gene Name

tRNA methyltransferase 44

Synonyms

2310079F23Rik

MMRRC Submission

039778-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R1746 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

35713547-35732414 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35721403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 587 (S587P)

Ref Sequence

ENSEMBL: ENSMUSP00000030980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030980]

AlphaFold

Q9D2Q2

Predicted Effect

probably benign
Transcript: ENSMUST00000030980
AA Change: S587P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030980
Gene: ENSMUSG00000029097
AA Change: S587P

Domain	Start	End	E-Value	Type
Pfam:AdoMet_MTase	252	363	3.1e-42	PFAM
low complexity region	524	540	N/A	INTRINSIC

Meta Mutation Damage Score

0.0672

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	T	A	13: 70,927,717 (GRCm39)		probably null	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Aknad1	A	G	3: 108,659,099 (GRCm39)	T38A	possibly damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgap21	T	C	2: 20,865,910 (GRCm39)	E902G	probably damaging	Het
Atg2b	A	G	12: 105,635,588 (GRCm39)	S227P	possibly damaging	Het
Atp2c2	C	T	8: 120,461,182 (GRCm39)		probably benign	Het
Atxn10	T	C	15: 85,260,864 (GRCm39)	V203A	probably damaging	Het
Chd9	A	C	8: 91,737,326 (GRCm39)	E1468D	probably benign	Het
Cntn5	T	A	9: 9,831,577 (GRCm39)	D601V	probably damaging	Het
Col4a2	G	A	8: 11,496,020 (GRCm39)	G1547D	probably benign	Het
Cul1	A	G	6: 47,485,179 (GRCm39)	E270G	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dmgdh	C	A	13: 93,888,933 (GRCm39)	T857K	probably benign	Het
Ednra	T	G	8: 78,398,211 (GRCm39)	T279P	probably benign	Het
Erbin	A	G	13: 103,987,339 (GRCm39)	I407T	probably damaging	Het
Fggy	A	G	4: 95,814,965 (GRCm39)	Y440C	probably damaging	Het
Flrt2	A	T	12: 95,747,566 (GRCm39)	N635Y	possibly damaging	Het
Fnbp1l	A	G	3: 122,350,140 (GRCm39)	I357T	probably benign	Het
Gulp1	A	G	1: 44,793,513 (GRCm39)	H58R	possibly damaging	Het
Hid1	A	T	11: 115,245,464 (GRCm39)	V446E	probably damaging	Het
Igfn1	A	G	1: 135,897,561 (GRCm39)	S1002P	possibly damaging	Het
Klri1	A	G	6: 129,675,118 (GRCm39)		probably null	Het
Kmt2d	A	C	15: 98,762,259 (GRCm39)	L409R	probably damaging	Het
Ltn1	A	C	16: 87,208,669 (GRCm39)	S810A	possibly damaging	Het
Mysm1	G	A	4: 94,836,648 (GRCm39)	Q721*	probably null	Het
Nae1	A	G	8: 105,254,017 (GRCm39)	V105A	possibly damaging	Het
Nagpa	C	T	16: 5,021,503 (GRCm39)	V83M	probably damaging	Het
Nrg2	G	A	18: 36,154,975 (GRCm39)	T503M	probably damaging	Het
Nrxn3	A	G	12: 89,221,789 (GRCm39)	M150V	possibly damaging	Het
Or5p52	C	A	7: 107,502,093 (GRCm39)	H56Q	probably benign	Het
Or8g28	A	G	9: 39,169,498 (GRCm39)	S157P	probably damaging	Het
Papola	T	A	12: 105,773,468 (GRCm39)	D162E	probably benign	Het
Plxnc1	T	C	10: 94,680,041 (GRCm39)		probably null	Het
Ppp1r16b	T	A	2: 158,588,585 (GRCm39)		probably null	Het
Ptprq	T	A	10: 107,474,691 (GRCm39)	E1338V	probably damaging	Het
Puf60	G	A	15: 75,942,633 (GRCm39)	H437Y	probably benign	Het
Qsox2	C	T	2: 26,110,650 (GRCm39)	V189I	probably benign	Het
Rad51ap2	A	T	12: 11,507,776 (GRCm39)	D566V	probably benign	Het
Rb1cc1	T	A	1: 6,333,237 (GRCm39)		probably null	Het
Rfpl4b	C	T	10: 38,697,049 (GRCm39)	C184Y	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rundc3a	GAGCC	GAGCCAGCC	11: 102,291,739 (GRCm39)		probably null	Het
Scara5	A	C	14: 65,968,539 (GRCm39)	M271L	probably benign	Het
Sel1l2	A	G	2: 140,127,157 (GRCm39)	L118P	probably damaging	Het
Sema6a	T	A	18: 47,439,416 (GRCm39)		probably benign	Het
Siglech	T	A	7: 55,418,252 (GRCm39)	H73Q	probably benign	Het
Sim1	A	G	10: 50,860,205 (GRCm39)	D689G	probably benign	Het
Skp2	T	C	15: 9,139,530 (GRCm39)	E55G	possibly damaging	Het
Slc1a1	T	A	19: 28,871,869 (GRCm39)	V114E	probably benign	Het
Slc26a6	G	A	9: 108,738,916 (GRCm39)	G614D	probably benign	Het
Sptbn2	C	T	19: 4,795,992 (GRCm39)	Q1724*	probably null	Het
Tet3	T	C	6: 83,345,050 (GRCm39)	T1796A	probably damaging	Het
Tmem117	A	C	15: 94,829,714 (GRCm39)	D183A	possibly damaging	Het
Ttn	G	T	2: 76,619,166 (GRCm39)		probably benign	Het
Tubgcp5	G	A	7: 55,458,285 (GRCm39)	V399M	probably benign	Het
Txndc2	T	A	17: 65,945,130 (GRCm39)	D349V	probably damaging	Het
Uggt2	T	A	14: 119,250,915 (GRCm39)	N1194I	probably benign	Het
Vmn1r178	A	T	7: 23,593,329 (GRCm39)	I53L	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het

Other mutations in Trmt44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Trmt44	APN	5	35,726,147 (GRCm39)	missense	possibly damaging	0.61
IGL02139:Trmt44	APN	5	35,726,143 (GRCm39)	nonsense	probably null
IGL02223:Trmt44	APN	5	35,731,989 (GRCm39)	missense	probably benign	0.00
IGL02273:Trmt44	APN	5	35,731,457 (GRCm39)	missense	probably damaging	1.00
IGL02667:Trmt44	APN	5	35,728,396 (GRCm39)	missense	probably damaging	1.00
IGL03144:Trmt44	APN	5	35,721,766 (GRCm39)	missense	probably benign	0.27
R0207:Trmt44	UTSW	5	35,730,261 (GRCm39)	missense	possibly damaging	0.95
R0540:Trmt44	UTSW	5	35,726,103 (GRCm39)	critical splice donor site	probably null
R0607:Trmt44	UTSW	5	35,726,103 (GRCm39)	critical splice donor site	probably null
R1681:Trmt44	UTSW	5	35,727,321 (GRCm39)	missense	probably benign	0.13
R2128:Trmt44	UTSW	5	35,732,176 (GRCm39)	missense	probably benign	0.05
R4190:Trmt44	UTSW	5	35,732,314 (GRCm39)	missense	possibly damaging	0.60
R4611:Trmt44	UTSW	5	35,732,351 (GRCm39)	missense	probably benign	0.13
R4684:Trmt44	UTSW	5	35,715,387 (GRCm39)	missense	probably benign	0.07
R5114:Trmt44	UTSW	5	35,722,812 (GRCm39)	missense	possibly damaging	0.67
R5951:Trmt44	UTSW	5	35,730,032 (GRCm39)	unclassified	probably benign
R6125:Trmt44	UTSW	5	35,722,842 (GRCm39)	missense	probably damaging	1.00
R7131:Trmt44	UTSW	5	35,728,410 (GRCm39)	missense	probably damaging	1.00
R7239:Trmt44	UTSW	5	35,732,130 (GRCm39)	missense	probably benign	0.00
R7265:Trmt44	UTSW	5	35,721,647 (GRCm39)	missense	probably benign	0.13
R7561:Trmt44	UTSW	5	35,715,336 (GRCm39)	missense	possibly damaging	0.47
R8543:Trmt44	UTSW	5	35,732,374 (GRCm39)	missense	probably benign	0.01
R8552:Trmt44	UTSW	5	35,722,744 (GRCm39)	missense	probably benign	0.04
R8560:Trmt44	UTSW	5	35,715,295 (GRCm39)	missense	probably benign	0.00
R8850:Trmt44	UTSW	5	35,721,673 (GRCm39)	missense	probably benign	0.02
R9209:Trmt44	UTSW	5	35,731,422 (GRCm39)	critical splice donor site	probably null
R9330:Trmt44	UTSW	5	35,727,264 (GRCm39)	missense	probably damaging	1.00
R9588:Trmt44	UTSW	5	35,727,256 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAATGAGCAGGTTTCAGCCAATG -3'
(R):5'- AGGACAGTTGCAGGACCGTCAATG -3'

Sequencing Primer
(F):5'- GGTTTCAGCCAATGAACAATCAG -3'
(R):5'- ACCGTCAATGCTGGGTC -3'

Posted On

2014-05-23